Results 111 to 120 of about 127,159 (238)

Schematic overview of ALK2 exon skipping.

, 2013
Left panel: The ALK2 protein structural domains include ligand binding domain (LBD), transmembrane domain (TM), GS domain (GS), and kinase domain (KD). The position of each exon relative to each domain is denoted by broken lines.
Willem M. H. Hoogaars (430632), Annemieke Aartsma-Rus (33030), Jie Cai (389349), SongTing Shi (430629), Dwi U. Kemaladewi (430631), Peter A. C. ’t Hoen (5655445), David J. J. de Gorter (408007), Gonzalo Sanchez-Duffhues (430630), Peter ten Dijke (82259)   +8 more
core   +1 more source

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Depot‐Specific Insulin Receptor Isoform Dynamics During Human Adipose‐Derived Stem Cell Adipogenesis

Obesity, EarlyView.
Absolute quantification reveals depot‐specific insulin receptor (IR) isoform signatures in human adipose stem cells, with subcutaneous cells enriched in IRa and exhibiting greater adipogenic capacity and insulin responsiveness. The emergence of IR‐negative adipocytes highlights partially receptor‐independent pathways regulating human adipogenesis ...
Valentina Annamaria Genchi, Celeste Lauriola, Cristina Caccioppoli, Rossella D'Oria, Nicola Marrano, Giuseppina Biondi, Sebastio Perrini, Annalisa Natalicchio, Luigi Laviola, Francesco Giorgino, Angelo Cignarelli   +10 more
wiley   +1 more source

Precision medicine in cancer: A comprehensive review of advanced cancer diagnosis technologies and personalized treatment strategies

Precision Medical Sciences, EarlyView.
The translational pipeline of precision medicine in clinical oncology. Schematic overview of the individualized cancer care workflow. (1) Input: Patient samples undergo multi‐omic profiling via NGS, single‐cell diagnostics, spatial maps, and epigenetic sequencing.
Asif Jan, Bushra Waheed, Rani Akbar, Daniel Dubwa   +3 more
wiley   +1 more source

Targeting the CD47–SIRPα phagocytic checkpoint in cancer: Biology, translational opportunities, and next‐generation therapeutic strategies

Smart Molecules, EarlyView.
The CD47–SIRPα axis has emerged as a critical innate immune checkpoint that suppresses macrophage‐mediated phagocytosis through a canonical “don't eat me” signal and enables tumor immune evasion. We comprehensively summarize the structural and biological features of CD47 and the molecular mechanisms underlying CD47‐mediated regulation of phagocytosis ...
Ruimei Zhou, Lingjie Jing, Jianping Zhang, Cheng Guo, Quanjun Yang   +4 more
wiley   +1 more source

Molecular glues: Recent advances in cereblon substrate identification and mechanistic insights

Smart Molecules, EarlyView.
Molecular glues exert diverse core biological functions by inducing or stabilizing protein–protein interactions, extending far beyond the traditional scope of targeted protein degradation. Key breakthroughs include expanded cereblon substrate recognition, sustained G protein‐coupled receptor megacomplex signaling, and the first orthosteric molecular ...
Qingyun Guan, Xiaoyu Shi, Qian Yang, Xiangyi Jiang, Xinyong Liu, Peng Zhan   +5 more
wiley   +1 more source

Terminal antisense oligonucleotide modifications can enhance induced exon skipping

, 2005
Induction of specific exon skipping during the processing of the dystrophin gene transcript is being pursued as a potential therapy for Duchenne muscular dystrophy.
Gebski, B.L., Errington, S.J., Johnsen, R.D., Wilton, S.D., Fletcher, S.   +4 more
core  

Deficiency of high‐molecular‐weight von Willebrand factor mitigates thrombo‐complement injury in an LPS‐induced TMA‐like mouse model

VIEW, EarlyView.
Reduction of high‐molecular‐weight von Willebrand factor disrupts the platelet–complement amplification loop, attenuating microvascular thrombosis, complement deposition, endothelial injury, and organ damage in complement‐mediated thrombotic microangiopathy.
Yang Li, Chihao Zhang, Xiaoqian Xu, Sicong Wang, Xiaofan Hu, Junjie Yao, Xi Wu, Difeng Zhu, Qian Liang, Yeling Lu, Yu Liu, Guanqun Xu, Jiakuan Zhou, Qiulan Ding, Wenman Wu, Ya Li, Jing Dai, Xuefeng Wang   +17 more
wiley   +1 more source

Male Mice Heterozygous for Protamine 1 and Protamine 2 Are Infertile, Displaying Sperm Damage and Retention of Protamine 2 Precursors, Transition Proteins, and Histones

Andrology, EarlyView.
ABSTRACT Background During spermiogenesis, protamines (PRMs) replace histones to hypercondense and protect sperm DNA. Rodents and primates express two PRMs (PRM1 and PRM2). Alterations of species‐specific PRM ratios are associated with sub‐ or infertility in mice and humans.
Gina Esther Merges, Christoph Wiesejahn, Mar Domingo‐Lopez, Simon Schneider, Andjela Kovacevic, Lena Arévalo, Hubert Schorle   +6 more
wiley   +1 more source

Evaluation of exon skipping using novel chemically-modified antisense oligonucleotides

, 2018
Antisense oligonucleotides (AOs) have gained significant interest in recent years towards the development of therapeutics against several diseases. AOs can be used to regulate the function of RNAs by skipping or retaining a specific exon inmessenger RNAs
Veedu, R.N.
core